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Spermatogenic failure 80

Summary

Spermatogenic failure-80 (SPGF80) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including short, coiled, absent, and irregular-caliber flagella, with correspondingly reduced or absent progressive motility of sperm. Abnormalities of the sperm head have also been observed. Severe axonemal disorganization is evident on transmission electron microscopy (Zhang et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C2orf39, CCDC164, CILD21, SPGF80, DRC1
    Summary: dynein regulatory complex subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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